LAMB3 - laminin subunit beta 3 Gene

Also Known as AI1A; LAM5; JEB1A; JEB1B; LAMNB1; BM600-125KDA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3914

About LAMB3

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:209,614,870-209,652,425 (from NCBI)

This gene has 5 transcripts (splice variants), 130 orthologues, 27 paralogues and is associated with 7 phenotypes. Broad expression in stomach (RPKM 30.8), small intestine (RPKM 17.6) and 16 other tissues.

Summary

The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

LAMB3 Products (3)

mRNA	Protein	Name
NM_000228.3	NP_000219.2	laminin subunit beta-3 precursor
NM_001017402.2	NP_001017402.1	laminin subunit beta-3 precursor
NM_001127641.1	NP_001121113.1	laminin subunit beta-3 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19275936	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endodermal cell differentiation	IEP IEP: Inferred from expression pattern	23154389	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMB3 Protein Structure

Laminin_N

Laminin_EGF

0
200
400
600
800
1000
1172 a.a.

Protein Preferred Names	Protein Names
laminin subunit beta-3	epiligrin subunit bata

Related Diseases

Diseases	Alias
Epidermolysis Bullosa, Junctional 1b, Severe	Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Letalis JEB1B Epidermolysis Bullosa Junctionalis, Herlitz Type Jeb-Herlitz Type Herlitz-Pearson-Type Epidermolysis Bullosa Junctional Epidermolysis Bullosa Herlitz Type Jeb-H Junctional Epidermolysis Bullosa Generalisata Gravis Junctional Epidermolysis Bullosa, Herlitz-Pearson Type Epidermolysis Bullosa, Junctional, Generalized Severe Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type Herlitz Type Epidermolysis Bullosa Junctionalis Severe Generalized Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa, Herlitz Type Severe Generalized Jeb Epidermolysis Letalis Junctional Epidermolysis Bullosa Gravis Junctional Epidermolysis Bullosa Herlitz-Pearson Type Herlitz Disease
Epidermolysis Bullosa, Junctional 1a, Intermediate	Jeb-I JEB1A Epidermolysis Bullosa Junctionalis, Disentis Type Junctional Epidermolysis Bullosa Inversa Generalized Atrophic Benign Epidermolysis Bullosa Epidermolysis Bullosa, Junctional 1a, Generalized Intermediate Epidermolysis Bullosa, Junctional 1a, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Non-Herlitz Type Epidermolysis Bullosa Junctionalis, Progressive Epidermolysis Bullosa Junctionalis, Severe Nonlethal Localized Junctional Epidermolysis Bullosa Jeb-Nh Loc Junctional Epidermolysis Bullosa, Non-Herlitz Localized Type Localized Jeb Intermediate Generalized Junctional Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Intermediate Generalized Jeb Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Jeb Inversa Epidermolysis Bullosa Atrophicans Generalisata Mitis Epidermolysis Bullosa Junctionalis Disentis Type Epidermolysis Bullosa Junctionalis Progressive Epidermolysis Bullosa Junctionalis Severe Non-Lethal Gabeb Generalized Junctional Epidermolysis Bullosa Mitis Non-Herlitz Junctional Epidermolysis Bullosa Epidermolysis Bullosa Inversa Dystrophica
Amelogenesis Imperfecta, Type Ia	Amelogenesis Imperfecta Type 1a AI1A Amelogenesis Imperfecta, Hypoplastic Type Ia Amelogenesis Imperfecta Type Ia Amelogenesis Imperfecta Hypoplastic Type Ia Amelogenesis Imperfecta 1a
Hypoplastic Amelogenesis Imperfecta	Amelogenesis Imperfecta Type 1 Amelogenesis Imperfecta, Hypoplastic Type Amelogenesis Imperfecta Local Hypoplastic Form
Junctional Epidermolysis Bullosa Non-Herlitz Type	Junctional Epidermolysis Bullosa, Non-Herlitz Type Gabeb Generalized Atrophic Benign Epidermolysis Bullosa Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type Jeb-Nh Gen Jen-Nh Junctional Epidermolysis Bullosa Generalisata Mitis Junctional Epidermolysis Bullosa, Disentis Type Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Amelogenesis Imperfecta Local Hypoplastic	Local Hypoplastic Amelogenesis Imperfecta
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Epidermolysis Bullosa, Junctional 4, Intermediate	Gabeb JEB4 Epidermolysis Bullosa, Junctional 4, Non-Herlitz Type Epidermolysis Bullosa, Generalized Atrophic Benign Epidermolysis Bullosa, Junctional, Localisata Variant
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Bullous Pemphigoid	Benign Pemphigus Senile Dermatitis Herpetiformis Old Age Pemphigus Parapemphigus Pemphigoid Pemphigoid Bullous Pemphigoid, Bullous
Recessive Dystrophic Epidermolysis Bullosa	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Rdeb Generalisata Gravis Rdeb, Severe Generalized Rdeb-Sev Gen Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized Hallopeau-Siemens Disease
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia Carmi Syndrome Epidermolysis Bullosa, Junctional, With Pyloric Atresia Jeb-Pa JEB5B Epidermolysis Bullosa Junctionalis With Pyloric Atresia Aplasia Cutis Congenita With Gastrointestinal Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Eb-Pa-Acc Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Jeb With Pyloric Atresia Epidermolysis Bullosa Letalis, With Pyloric Atresia Pa-Jeb Epidermolysis Bullosa With Pyloric Atresia
Esophageal Basaloid Squamous Cell Carcinoma	Basaloid Squamous Carcinoma Of Esophagus Esophageal Basaloid Carcinoma
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07504	LAMB3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20978	Lamb3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27495	Lamb3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LAMB3	VGNC	VGNC:74230
Canis familiaris	LAMB3	VGNC	VGNC:42569
Mus musculus	LAMB3	MGD	MGI:99915
Felis catus	LAMB3	VGNC	VGNC:68009
Bos taurus	LAMB3	VGNC	VGNC:30773
Rattus norvegicus	LAMB3	RGD	RGD:1562668